Montreal Children’s Hospital Successfully Treats Youngest North American Patient with Gene Therapy for Rare Disease
Samuel, a nine-day-old baby, has become the youngest patient in North America to receive a groundbreaking gene therapy treatment for spinal muscular atrophy (SMA) at the Montreal Children’s Hospital. This rare progressive genetic disease affects the nerve cells controlling a person’s muscles and typically leads to severe muscle weakness and respiratory problems, resulting in a limited life expectancy.
The gene therapy used to treat Samuel, called Zolgensma, has been highly effective in halting the progression of SMA. Now four months old, Samuel is developing normally, defying the expected deterioration that accompanies this disease. His remarkable progress has brought hope to his family and medical professionals alike.
Dr. Maryam Oskoui, the head of pediatric neurology at the MCH, explained that SMA causes weakness in various muscle groups, including those responsible for voluntary movements, swallowing, and breathing. Without treatment, most infants with SMA do not survive beyond their first year. Therefore, witnessing Samuel reaching developmental milestones and growing like any other healthy baby has been an incredible experience for his mother, Audrey Bouchard.
However, Samuel’s success story has also brought a bittersweet feeling for Bouchard, as her eldest child, Ariane, was born with SMA nine years ago but did not have the same opportunity for early intervention. While Ariane did receive a similar gene therapy treatment, it was during its early trial phase, resulting in a lower dosage and delayed administration. As a result, irreversible damage had already occurred by the time she received the treatment at six months of age.
Currently, Ariane, now nine years old, struggles with limited mobility and depends on permanent tracheostomy ventilation and a feeding tube. While her intelligence and brain function remain unaffected, the loss of motor skills and the progressive nature of the disease make her situation particularly devastating.
Dr. Oskoui emphasizes the importance of early intervention in treating SMA. In Samuel’s case, since Bouchard was aware of the condition during her pregnancy, the medical team at MCH mobilized swiftly to initiate treatment immediately after birth, leading to positive outcomes. Oskoui stresses that time is of the essence when it comes to SMA, as delayed treatment can significantly impact a child’s development over time.
Zolgensma, the gene therapy used for Samuel, is a one-time treatment that costs over $2 million. Thankfully, the Quebec government covers the cost of this therapy, ensuring access for patients like Samuel. The MCH team has been praised for efficiently orchestrating Samuel’s treatment and ensuring his well-being. Oskoui remains optimistic about the future, as newborn screening programs for SMA are being implemented worldwide, including in some Canadian provinces.
The Quebec government has announced plans to establish its own SMA screening program, which is expected to be included in the provincial neonatal screening program in the near future. Dr. Oskoui underscores the critical role of early detection in saving lives and improving outcomes for children with SMA.
Samuel’s case serves as a testament to the power of gene therapy in treating rare genetic diseases, providing hope for families facing similar challenges. As research and technology advance, there is optimism that more lives will be positively impacted, reducing the devastating consequences of rare diseases like SMA.
